CTBP1

Chr 4AD

C-terminal binding protein 1

Also known as: BARS, HADDTS

NCBI Gene: 1487 ENSG00000159692 UniProt: Q13363 OMIM: 602618

CTBP1 encodes a transcriptional corepressor with dehydrogenase activity that controls Golgi structure and brown adipose tissue differentiation. Mutations cause hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.98), reflecting its critical role in development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeMIM #617915

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.28

LOEUF· LoF intol.

LOF

Mechanism· G2P